Incidental Mutation 'IGL01060:Ltf'
ID51851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltf
Ensembl Gene ENSMUSG00000032496
Gene Namelactotransferrin
SynonymsLf, lactoferrin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01060
Quality Score
Status
Chromosome9
Chromosomal Location111019271-111042767 bp(+) (GRCm38)
Type of Mutationsplice site (557 bp from exon)
DNA Base Change (assembly) A to T at 111022882 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035077] [ENSMUST00000196122] [ENSMUST00000196209] [ENSMUST00000196777] [ENSMUST00000198884]
Predicted Effect probably benign
Transcript: ENSMUST00000035077
AA Change: D182V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: D182V

DomainStartEndE-ValueType
TR_FER 24 362 1.48e-209 SMART
TR_FER 363 696 4.68e-212 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196122
AA Change: D129V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143234
Gene: ENSMUSG00000032496
AA Change: D129V

DomainStartEndE-ValueType
TR_FER 4 183 6.4e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000196209
SMART Domains Protein: ENSMUSP00000143731
Gene: ENSMUSG00000032496

DomainStartEndE-ValueType
Pfam:Transferrin 13 78 3.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196777
SMART Domains Protein: ENSMUSP00000143629
Gene: ENSMUSG00000032496

DomainStartEndE-ValueType
TR_FER 1 121 2.3e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197893
Predicted Effect probably benign
Transcript: ENSMUST00000198152
Predicted Effect probably null
Transcript: ENSMUST00000198884
SMART Domains Protein: ENSMUSP00000142432
Gene: ENSMUSG00000032496

DomainStartEndE-ValueType
TR_FER 1 95 4.3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200459
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and grossly normal and exhibit only minor alterations in iron homeostasis. Mice homozygous for a different knock-out allele show increased susceptibility to inflammation-induced colorectal dysplasia along with increased cell proliferation and decreased apoptosis in colonic tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Anks4b A G 7: 120,173,925 T3A possibly damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccdc78 A G 17: 25,788,832 D281G probably damaging Het
Ccnb3 A T X: 6,980,274 N1362K probably benign Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Fam120c C T X: 151,469,587 P1045S probably benign Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Popdc2 T A 16: 38,373,965 N249K probably damaging Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rps6ka1 A T 4: 133,860,870 S320T probably damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Smyd2 T C 1: 189,897,470 E121G possibly damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Ltf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Ltf APN 9 111035812 splice site probably null
IGL01311:Ltf APN 9 111031012 unclassified probably benign
IGL01629:Ltf APN 9 111035806 missense probably damaging 1.00
IGL01765:Ltf APN 9 111022017 missense possibly damaging 0.86
IGL02376:Ltf APN 9 111029624 missense probably benign 0.01
IGL02429:Ltf APN 9 111026125 missense possibly damaging 0.87
IGL02947:Ltf APN 9 111038947 missense probably benign 0.01
IGL03025:Ltf APN 9 111025101 missense possibly damaging 0.93
R0041:Ltf UTSW 9 111029568 missense possibly damaging 0.92
R0364:Ltf UTSW 9 111025167 missense probably benign 0.19
R0718:Ltf UTSW 9 111040379 missense probably benign 0.01
R1899:Ltf UTSW 9 111022845 missense possibly damaging 0.84
R1900:Ltf UTSW 9 111022845 missense possibly damaging 0.84
R2964:Ltf UTSW 9 111028472 missense possibly damaging 0.81
R2965:Ltf UTSW 9 111028472 missense possibly damaging 0.81
R2966:Ltf UTSW 9 111028472 missense possibly damaging 0.81
R3051:Ltf UTSW 9 111024522 missense probably benign 0.00
R3122:Ltf UTSW 9 111022900 missense probably damaging 1.00
R4427:Ltf UTSW 9 111023604 missense probably damaging 1.00
R4597:Ltf UTSW 9 111022933 missense probably damaging 1.00
R4604:Ltf UTSW 9 111022341 missense probably damaging 0.99
R4827:Ltf UTSW 9 111027377 unclassified probably benign
R4849:Ltf UTSW 9 111025990 missense probably benign 0.00
R5389:Ltf UTSW 9 111029651 missense possibly damaging 0.50
R5677:Ltf UTSW 9 111020912 start codon destroyed probably null 0.01
R6419:Ltf UTSW 9 111031022 missense possibly damaging 0.67
R6891:Ltf UTSW 9 111025113 missense probably benign 0.13
R7032:Ltf UTSW 9 111026130 critical splice donor site probably null
R7090:Ltf UTSW 9 111025980 missense probably benign 0.00
R7352:Ltf UTSW 9 111028450 missense probably benign
R7656:Ltf UTSW 9 111024394 nonsense probably null
R7857:Ltf UTSW 9 111022376 missense probably benign 0.00
R8751:Ltf UTSW 9 111031124 nonsense probably null
R8802:Ltf UTSW 9 111020950 missense probably benign 0.00
Z1177:Ltf UTSW 9 111021005 missense probably benign 0.01
Z1177:Ltf UTSW 9 111024393 missense probably damaging 0.98
Posted On2013-06-21